X连锁致命性多发性翼状胬肉综合征

定义 英文原文（暂无中文）

X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by the typical lethal multiple pterygium syndrome presentation (comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the 2nd or 3rd trimester) with an X-linked pattern of inheritance.

基本事实

遗传方式

X 连锁显性、X 连锁隐性

发病年龄

产前、新生儿期

患病率

<1 / 1 000 000

外部标识与链接